Siddharth Shah

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We describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine. Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and(More)
AIM To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation. METHOD We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was(More)
OBJECTIVE MRI in vanishing white matter typically shows diffuse abnormality of the cerebral white matter, which becomes increasingly rarefied and cystic. We investigated the MRI characteristics preceding this stage. DESIGN In a retrospective observational study, we evaluated all available MRIs in our database of DNA-confirmed VWM patients and selected(More)
Spinal cord arterio-venous malformations (AVMs) are rare and the diagnosis is often delayed or missed. We describe two cases presenting in different ways, as subarachnoid haemorrhage (SAH) or myelopathy. A catheter angiogram confirmed the diagnosis following which they were treated with coil occlusion or embolisation, or a combination of both, without any(More)
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